Genetic Epilepsy
Gene: GRIN2D

GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D)
EnsemblGeneIds (GRCh38): ENSG00000105464
EnsemblGeneIds (GRCh37): ENSG00000105464
OMIM: 602717, Gene2Phenotype
GRIN2D is in 5 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism.
Created: 16 May 2022, 1:59 a.m. | Last Modified: 16 May 2022, 1:59 a.m.

Panel Version: 0.14341

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 46 617162

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 May 2022, 1:59 a.m.
Last Modified: 16 May 2022, 1:59 a.m.
Panel version: Imported from Mendeliome panel version 0.14341

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism.
Created: 6 Feb 2020, 11:09 p.m. | Last Modified: 6 Feb 2020, 11:09 p.m.

Panel Version: 0.596

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability

Publications

Mode of pathogenicity
Other

Created: 6 Feb 2020, 11:09 p.m.
Last Modified: 6 Feb 2020, 11:09 p.m.
Panel version: 0.596

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Epileptic encephalopathy, early infantile, 46, MIM# 617162
intellectual disability

OMIM

602717

Clinvar variants

Variants in GRIN2D

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene